日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

超越读通：ataluren 通过 mTOR-DRP1 调节恢复 FANCA 突变细胞的线粒体功能并降低氧化应激。

期刊:Cell Death Discovery
影响因子:7
doi:10.1038/s41420-026-02983-6
Balbi Matilde, Guidi Elisa, Hristodor Anca Manuela, Corsolini Fabio, Cossu Vanessa, Bottega Roberta, Serra Martina, Pestarino Sara, Bartolucci Martina, Cipolli Marco, Regis Stefano, Bezzerri Valentino, Cappelli Enrico, Ravera Silvia
细胞生物学
MTOR
DRP1
FANCA
mTOR
线粒体
氧化应激
发表日期：2026
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Unmasking Celiac Disease Through Chronic Urticaria: Case Report and Scoping Review

通过慢性荨麻疹揭示乳糜泻：病例报告和范围综述

期刊:Nutrients
影响因子:5
doi:10.3390/nu18030476
Cappozzo, Francesca; Schrempp Esteves, Catarina; Corsolini, Fabio; Lacovara, Andrea; Pastorino, Julieta; Naso, Matteo; Ferro, Jacopo; Malerba, Federica; Bonassi, Stefano; Crocco, Marco
代谢
乳糜泻
麻疹
发表日期：2026
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Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

对一个患有血小板减少症和其他先天性畸形的家族中发现的新型 FLI1 突变进行表征。

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2024.287120
Ammeti Daniele, Barozzi Serena, Pecci Alessandro, Zanchetta Melania Eva, Cesnik Edward, Ferlini Alessandra, Sanchini Mariabeatrice, Verga Laura, Bozzi Valeria, Corsolini Fabio, Faleschini Michela, Savoia Anna, Bigoni Stefania
血小板
发表日期：2025
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miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.

miR-29a-3p 和 TGF-β 轴在范可尼贫血中的作用：驱动代谢功能障碍和基因组稳定性的机制

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-025-05775-w
Bertola Nadia, Regis Stefano, Cossu Vanessa, Balbi Matilde, Serra Martina, Corsolini Fabio, Bottino Cristina, Degan Paolo, Dufour Carlo, Pierri Filomena, Cappelli Enrico, Ravera Silvia
代谢
TGF-β
发表日期：2025
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Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

涉及 ANKRD26 的染色体缺失导致融合蛋白的表达，该融合蛋白是 ANKRD26 相关血小板减少症的罪魁祸首

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26157330
Dell'Orso Gianluca, Passarella Tommaso, Cappato Serena, Cappelli Enrico, Regis Stefano, Maffei Massimo, Balbi Matilde, Ravera Silvia, Di Martino Daniela, Viaggi Silvia, Davì Sabrina, Corsolini Fabio, Giarratana Maria Carla, Arcuri Luca, Mariani Eugenia, Morini Riccardo, Massaccesi Erika, Guardo Daniela, Calvillo Michaela, Palmisani Elena, Coviello Domenico, Fioredda Francesca, Dufour Carlo, Bocciardi Renata, Miano Maurizio
其它
发表日期：2025
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Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review

手部僵硬并非仅仅是风湿病体征：一例早期发病的III-γ型黏脂沉积症病例报告及文献复习

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101246
La Rosa, Alessandro; Pepe, Alessia; Tappino, Barbara; Corsolini, Fabio; Chiaro, Andrea; Madeo, Annalisa
发表日期：2025
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Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

埃文斯综合征和多系血细胞减少症患者的潜在先天性免疫缺陷：一项单中心分析

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2022.869033
Miano, Maurizio; Guardo, Daniela; Grossi, Alice; Palmisani, Elena; Fioredda, Francesca; Terranova, Paola; Cappelli, Enrico; Lupia, Michela; Traverso, Monica; Dell'Orso, Gianluca; Corsolini, Fabio; Beccaria, Andrea; Lanciotti, Marina; Ceccherini, Isabella; Dufour, Carlo
细胞生物学
免疫/内分泌
发表日期：2022
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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

范可尼贫血的分子分析：意大利儿科肿瘤血液学会骨髓衰竭研究组的经验

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2014.104224
De Rocco, Daniela; Bottega, Roberta; Cappelli, Enrico; Cavani, Simona; Criscuolo, Maria; Nicchia, Elena; Corsolini, Fabio; Greco, Chiara; Borriello, Adriana; Svahn, Johanna; Pillon, Marta; Mecucci, Cristina; Casazza, Gabriella; Verzegnassi, Federico; Cugno, Chiara; Locasciulli, Anna; Farruggia, Piero; Longoni, Daniela; Ramenghi, Ugo; Barberi, Walter; Tucci, Fabio; Perrotta, Silverio; Grammatico, Paola; Hanenberg, Helmut; Della Ragione, Fulvio; Dufour, Carlo; Savoia, Anna
肿瘤免疫
肿瘤
代谢
贫血
发表日期：2014
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Remembering Professor Peter Jacobs (21 March 1934 – 18 November 2013)

缅怀彼得·雅各布斯教授（1934年3月21日—2013年11月18日）

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2020.276428
Stein, Eytan M; De Rocco, Daniela; Bottega, Roberta; Cappelli, Enrico; Cavani, Simona; Criscuolo, Maria; Nicchia, Elena; Corsolini, Fabio; Greco, Chiara; Borriello, Adriana; Svahn, Johanna; Pillon, Marta; Mecucci, Cristina; Casazza, Gabriella; Verzegnassi, Federico; Cugno, Chiara; Locasciulli, Anna; Farruggia, Piero; Longoni, Daniela; Ramenghi, Ugo; Barberi, Walter; Tucci, Fabio; Perrotta, Silverio; Grammatico, Paola; Hanenberg, Helmut; Ragione, Fulvio Della; Dufour, Carlo; Savoia, Anna; Foà, Robin
发表日期：2014
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

对38个PLP1相关疾病家族的PLP1基因进行分子遗传学分析：鉴定和功能表征11个新的PLP1突变

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-6-40
Grossi, Serena; Regis, Stefano; Biancheri, Roberta; Mort, Matthew; Lualdi, Susanna; Bertini, Enrico; Uziel, Graziella; Boespflug-Tanguy, Odile; Simonati, Alessandro; Corsolini, Fabio; Demir, Ercan; Marchiani, Valentina; Percesepe, Antonio; Stanzial, Franco; Rossi, Andrea; Vaurs-Barrière, Catherine; Cooper, David N; Filocamo, Mirella
PLP1
发表日期：2011
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